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Biomedical subjects

S Carrara

Publications and source records attributed to S Carrara.

27 records · Page 2Linked to original sources
PubMedDate not supplied

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

To determine the role played by MLH1 and MSH2 missense variants in cancer susceptibility, we have investigated the following genetic and biological characteristics associated with six MLH1 and four MSH2 missense changes identified in Italian hereditary nonpolyposis colorectal cancer (HNPCC) families: co-segregation with disease phenotype and/or bonafide pathogenetic mutations; presence of the variant in healthy control subjects; evolutionary conservation of the involved aminoacid and type of aminoacid change; and presence/absence of microsatellite instability (MSI) in tumour DNA. Overall, nine variants did not fulfil > or = 2 pathogenicity criteria. MSI was investigated in tumour samples from carriers of nine different missense mutations. Only 3/9 variants were associated with MSI in tumour DNA. In addition, four variants were not present in affected pedigree members, and five variants were observed in the control population. Based upon these results, we conclude that most MLH1 and MSH2 missense changes are unlikely to act as major causative factors in colorectal cancer susceptibility and development.

Adaptor Proteins, Signal Transducing↗
PubMedDate not supplied

Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer.

This study investigates whether microsatellite instability (MSI) due to defects of the mismatch repair (MMR) system could be associated with response to cisplatin-based neoadjuvant chemotherapy (NACT) and if cisplatin exposure could select MSI-positive cell clones in cervical cancer. Microsatellite analysis was performed by polymerase chain reactions using six microsatellite markers, while hMLH1 protein expression was investigated by immunohistochemistry. We found that 1 tumor out of 20 (5%) NACT-responding patients and 1 tumor out of 18 (6%) nonresponding patients showed MSI. The analysis of tumor specimens collected after NACT revealed no change in the banding pattern as compared to each corresponding pre-NACT tumor at each locus tested. hMLH1 staining was observed in at least > or =80% of cells in all tumors examined except the two exhibiting MSI. Our data showed that MSI due to defects of the MMR system seems not to play a crucial role in the biology of human cervical cancer cells and that MSI seems not to be related to response to chemotherapy. Moreover, cisplatin exposure did not seem to select for MMR-deficient tumor clones in cervical cancer.

Adaptor Proteins, Signal Transducing↗
PubMedDate not supplied

Different cytokine production and effector/memory dynamics of alpha beta+ or gamma delta+ T-cell subsets in the peripheral blood of patients with active pulmonary tuberculosis.

Immunity to M.tuberculosis (MTB) infection consists of interactions between various T-cell subsets that control the infection and prevent further reactivation. We analysed the effector/memory T-cell dynamics and cytokines production in the peripheral blood of patients with pulmonary tuberculosis (TB). We observed that the frequency of CD4+ T-cell effectors was significantly increased during active TB, confirming a major role of this T-cell subset in TB immunity. Pre-terminally differentiated CD8+ T-lymphocytes were increased in the peripheral blood as well. In contrast, we observed a reduced number of effector mycobacteria-reactive gammadelta+ T-lymphocytes with a specific defects in reacting to mycobacterial nonpeptidic antigens, suggesting that this innate response is rapidly lost during TB infection. Nevertheless, the frequency of gammadelta+ T-cells effectors in TB patients was higher than the alphabeta+ T-cell response to peptide from MTB-ESAT-6 protein and quantitatively similar to PPD reactivity. Thus, alphabeta+ and gammadelta+ T-cell differentiation and function are differently triggered by active TB infection.

Adult↗
PubMedDate not supplied

[The symbolic geopolitics of syphilis: an essay in historical anthropology].

The article analyzes certain scientific ideas that Brazilian physicians, and particularly syphilologists, have held about this disease. During the 1920's especially, these specialists constructed a uniquely Brazilian version of the disease as they debated with foreign specialists on the origins, symptoms, and incidence of syphilis in Brazil. In their formulations, syphilis became a kind of natural symbol through which they expressed their desires to play a leading role within the international scientific community and put forth efforts to earn Brazil a new status in the world ranking of nations contesting the notion that Brazil was forever doomed to backwardness and barbarism because it was a tropical country with a racially mixed population.

Anthropology, Cultural↗
PubMedDate not supplied

[Clinical evolution of chronic pancreatitis and quality of life].

Nowadays the availability of reliable, efficacious methods of assessing the outcome of chronic pancreatitis is mandatory, especially in view of the several new procedures developed to relieve the symptoms of the disease. Together with the traditional evaluation of postoperative morbidity and mortality and the assessment of exo/endocrine function in patient follow-up, we currently consider the patient's perception of his or her health status as a priority. This information is obtained by administering quality of life questionnaires along with reliable physical and psychometric evaluation.

Abdominal Pain↗
PubMedDate not supplied

[Work posture and changes in the spine of sewing workers in the clothing industry].

An evaluation was made of the posture risk and occurrence of alterations of the spine in a sample of female sewing machine operators in the clothing industry. The results revealed a greater risk for sewing operators of contracting spinal disorders compared with a control population matched for sex and age. The cause of these disorders appears to be due to the fact that the work station cannot be adjusted to the anthropometric requirements of the individual subject, and also because the seated position is maintained for long periods.

Adolescent↗